People living with Marfan Syndrome and other heritable thoracic aortic conditions (Loeys-Dietz syndrome (LDS), vascular Ehlers-Danlos syndrome (vEDS), and familial thoracic aortic aneurysm and dissection (FTAAD) carry a 250 times greater risk of aortic aneurysm and possibly fatal dissection and/or rupture than the general population. Many of these individuals are unaware they have a genetic aortic and vascular condition until they present with emergency symptoms.
Nurses can play a pivotal, life-saving role – especially in the emergency setting – by learning to spot the most common signs of the conditions
, knowing the symptoms of aortic dissection, and advocating for time-sensitive studies (e.g. computer tomography angiography (CTA), magnetic resonance imaging/angiography (MRI / MRA), transthoracic/transesophageal echocardiogram (TTE / TEE)) to be completed promptly — expediting potentially life-saving medical and surgical interventions. Likewise, obtaining medical and social histories and completing physical exams saves lives.
When it comes to aortic dissection/rupture, patients will often complain of “tearing/ripping” or migratory chest/abdominal/back pain with an abrupt (“thunderclap”) onset, possible syncope, and/or neurological deficits. Yet, be advised many patients present atypically, and dissection can be harder to spot (which is why up to 40% of AAS cases are missed by Emergency Medicine providers, according to some studies).
Know the Signs
Classic signs (e.g. disproportionately tall stature, wide wingspan, arachnodactyly, joint hypermobility) and family history of thoracic aortic aneurysm, cerebral aneurysm or unexplained sudden death can be helpful in identifying patients previously undiagnosed with these conditions. Notably, 75% of cases of Marfan Syndrome are inherited, whereas 25% arise from spontaneous (de novo) genetic mutations where patients are the first in their family with the condition.
Clinical features of Marfan syndrome and other HTADs will often affect multiple systems, including the cardiovascular system, bones, joints, lungs, skin, nervous system, and eyes. While these syndromes present across the gamut from mild to severe phenotypes, several clinical stigmata are diagnostic markers. The observable characteristics and traits of Marfan syndrome are outlined in the revised Ghent Nosology (2010), include disproportionately tall stature, abnormally long slender fingers, scoliosis, pectus deformities such as pectus excavatum and pectus carinatum, ectopia lentis (displacement of the lens), nearsightedness, history of pneumothorax, flat feet with hindfoot deformity, and dural ectasia (widening or ballooning of the spinal sac surrounding the spinal cord). The phenotype may be highly variable, even in a family with the same gene, and not all affected individuals demonstrate the same traits.
Symptoms of Acute Aortic Syndrome
There are features in the history, physical exam, and underlying condition that should heighten one’s suspicion of an acute aortic syndrome.
Underlying conditions, including Marfan, LDS, vEDS, bicuspid aortic valve, Turner syndrome, and known thoracic aortic aneurysm, are all high-risk conditions with risk for AAS. High-risk symptoms include abrupt onset of severe or sharp chest and/or back or abdominal pain or syncope. The descriptive symptoms of “ripping or tearing pain” are less frequent but more specific. High-risk physical exam features include abnormal BP difference between arms or legs and a murmur of aortic regurgitation.
These incorporate all of the classically associated features of AAS, which should be sought in acutely ill patients presenting to the ED. Patients may also experience shortness of breath, syncope, hemodynamic instability, stroke-like neurological deficits, or other features of malperfusion. Making AAS a challenging diagnosis, many of these symptoms mimic far more common cardiovascular etiologies that present to the ED (acute coronary syndrome (ACS), pulmonary embolism, and stroke, which can risk AAS being overlooked or diminished in an otherwise time-sensitive differential diagnosis and workup. Care must therefore be taken to raise suspicion for this pathology in the appropriate clinical setting and follow diagnostic and treatment guidelines currently published by the American College of Emergency Physicians (ACEP), American Heart Association (AHA), and related expert groups.
When to suspect Marfan Syndrome and Other HTAD
The 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease lists the following criteria for when to suspect HTAD in individuals with thoracic aortic disease who have:
Syndromic features of Marfan syndrome, Loeys-Dietz syndrome, or vascular Ehlers-Danlos syndrome.
Thoracic aortic disease (TAD) presenting at age <60 years of age.
Family history of either TAD or peripheral/intracranial aneurysms in a first- or second-degree relative.
A history of unexplained sudden death at a relatively young age in a first or second-degree relative.
While a genetic aortopathy may be suspected in the ED, patients with features of these conditions should be referred to an aortopathy specialist and/or medical geneticist.
Long-Term Maintenance Care
After the diagnosis of Marfan Syndrome or another HTAD is made, a baseline echocardiogram, CTA, or MRA is advised to screen for aortic and/or branch vessel aneurysms, depending upon the condition. This is crucial as aneurysms are most often asymptomatic, and aortic dissection or rupture may be the first indicator.
If a patient is found to have an aneurysm, surveillance imaging tracks the absolute size and rate of growth to determine the potential need for surgical intervention. In Marfan syndrome, surgical repair is indicated when the aorta reaches ≥ 5.0cm. However, other factors such as family history, rate of aortic growth, desire for pregnancy, and absolute size are also considered.
In LDS and other HTADs, aortic surgery is typically recommended at smaller aortic diameters than in MFS. Long-term maintenance and medical management are often initiated in the outpatient clinical setting, including blood pressure control (i.e., beta-blockers, angiotensin receptor blockers), smoking cessation, and exercise restrictions (i.e., weight-lifting, contact sports). This requires patients to be guided toward expert clinical centers and networks capable of providing multi-specialty care for their complex conditions, including primary care physicians, cardiologists, cardiothoracic and vascular surgeons, orthopedists, ophthalmologists, and so forth.
Patients who have experienced the traumatic event of aortic dissection, along with the challenging surgeries, hospital stays, and possible long-term disabilities that may follow, need exceptional support and understanding from their healthcare providers. Additionally, it is crucial to provide resources for psychiatrists, therapists, social workers, and other professionals to help these patients attain a better quality of life moving forward.
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